Diagnosis Day

It's hard to believe it's been 10 years since diagnosis day for Teddy. 

He thought he was the doctor. That hasn't changed.

That's the day our lives changed forever in an instant, yet nothing changed in that moment. A diagnosis answered some questions yet opened Pandora's Box because only 3 research papers existed in 2015 on Multiple Congenital Anomalies Hypotonia Seizures Syndrome 1, as it was called back then. Literally, Google returned less than 10 hits. How can that happen?!?!

Those 3 research papers painted a bleak picture, with a life expectancy of 3 years written in black and white. That's the reason we kept the name to ourselves, aside from sharing it with my aunt who was entertaining AJ in the waiting room for the entire 3-hour appointment, for several weeks. We didn't want our parents to search it and find that devastating news until we could confirm with our genetics team that there was no reason to believe our little boy would die in the next 6 months (as he was 2.5 at the time of his diagnosis. 

We were told Teddy was believed to be the 15th person ... in the entire world of 7, 470,491,872 or so people. Mind-blowing to say the least, especially since there was only a 25 percent chance of us getting a diagnosis with the exome sequencing test. We had low expectations since every other test came back normal or negative, nothing explaining why Teddy was lagging further and further behind in milestones, lacked muscle tone and control and put a nasty spin on the phrase, "shake, rattle and roll" with his seizures.

That day cemented us as a family of 4 with no further children added to the mix. I distinctly recall them asking if we planned to have more children, and my honest answer of, "Not after today." 

That day, and the following month, were so hard with so many questions and so many unknowns. The first glimmer of hope came in connecting with another mom, even though she had already lost a child to this disorder and had another daughter affected. It was such a relief to have another human, another family who was walking a similar path. It truly was the best Christmas gift we could have received that year.

From there, we found a tiny Facebook group with a family from Australia, a family from Poland and two other families from the United States. We had so much in common, despite the cultural differences and the wide variation of how the disorder impacted our children.

Now, 10 years later our tiny Facebook group feels so much larger, with more than 100 known cases of what is now called PIGN-CDG (Congenital Disorders of Glycosylation). We families have banded together to try to find treatments to benefit not only our children but those to come. (You can learn more and donate here: https://secure.givelively.org/donate/cdg-care/finding-a-treatment-for-pign-cdg/kerry-blondheim). We've met several families in person, connected via technology and have developed incredible friendships. We mourn the loss of each beautiful soul to this disorder, celebrate every milestone and achievement and support each other through it all. 

While this isn't the path we'd have chosen for our family, we're so incredibly blessed with both our children and grateful for the support along this journey. After 10 years, it's so much easier to see all the connections and the incredible things that have come from this diagnosis and shaping our family into who we are. We're forever changed by being a part of this community and hope we can ease this diagnosis for those following behind us. 

Friendship

I know. I know.

Teddy's friendship with Mikey is a constant theme in blog posts this year because, well, it's a constant theme in our life. It's such a beautiful thing because friendship makes all our lives richer.

This weekend Mikey's mom shared a photograph of Mikey's health homework with me, and it makes my heart so happy.

All the feels. 🥰

It's neat to see a glimpse of what Mikey sees in Teddy, what he can put into words about why he enjoys Teddy's friendship so much. 

Ducks

I'd like to submit photographic evidence that my ducks were in a row. One time. At least for a bit.

That's me and 6 ducks in a row!

This was made possible in part by our Huckleberry Hiker, which allows us to hike with Teddy (down a rocky, steep, trail and through river crossings, as was the case with this hiker). It helps when the most unpredictable duck is strapped quite literally into a chariot that I'm pulling. But still, it counts as ducks in a row!

Family Photos

Last weekend we spent the weekend at our land with all our big kids, otherwise known as the Bigs or our adopted children. These incredible young adults aren't really our children, nor are they really technically adopted in the legal sense, but they are indeed our big kids ... an extension of our family.

Teddy is the catalyst for all these relationships, as most of our Bigs are caregivers (past or present) for Teddy. Throw in a few COVID bubbles, friendships fostered among the Bigs, and somehow we're all family. We now have 3 adopted daughters and 1 adopted son (who happens to be the biological brother of one of our daughters, so we're treated to some authentic sibling bickering, too, at times!). Add one long-term boyfriend to the mix, and we had 5 extra humans at our land last weekend, all of whom both our boys adore. 

This makes my heart so darn happy. They fill spaces in our lives that we didn't know were lacking. They choose to spend time with us, and they genuinely seem to enjoy hanging out with us. Plus, we're past all that teenage angst, drama and hormones with the Bigs. 

So while you might expect our family photo to look like this:

The reality is the one that is more accurate and complete is this:

S'mores

Teddy has never liked s'mores. He has attempted them and handed them back to us, made faces and refused them. 

So, we've adapted and given him deconstructed s'mores minus the marshmallows, which were clearly the culprit because the kid devours chocolate, graham crackers and peanut butter. (Hey, peanut butter is a s'more staple in our household.)

It's not that he's entirely against marshmallows. He's eaten them on occasion plain, and he definitely loves rice crispy bars. I think it's a texture thing with melty marshmallow, so we've just adapted and it's worked just fine ...

... until the other weekend when he kept trying to make a s'more. Since Teddy doesn't talk, there's always a little bit of trying to understand if our interpretation is correct. At first I thought he wanted a deconstructed s'more, but he clearly wanted to cook a marshmallow. So we did that and made a s'more. 

And he shocked me by eating it. (He still kept holding out his hand to have me wipe off the extra marshmallow stuck to him, so I think there's still a texture thing he's not completely loving.) Then he proceeded to make a second s'more and eat it.

His first-ever s'more that he actually ate!

He repeated this the following weekend, so it's safe to say he now enjoys s'mores. 

We joked it was peer pressure because we had a friend along the first weekend devouring s'mores. It's neat, though, to see him enjoy something in a new way and be a full part of the campfire experience.

Guess Who's Back?

... in school, that is.

Teddy's back, tell a friend. Oh wait, his best friend is in his class and rides his bus, so his friend already knows. 😉

All smiles for the first day of school!

Teddy is in 7th grade (ummm, how is that possible) and loves being back in school. He was so darn excited about the prospect of:

1. Going back to school
2. Seeing all his friends
3. Specifically seeing his best friend Mikey every day
4. Riding the bus
5. Going back to his after-school programming

And as I type this, I hear endless giggles as he works with his new at-home provider we have 2 days a week. So that either means that's going great or he's being silly doing things he shouldn't (or both, because that's also a valid possibility.)

Thus far communication from school has been good, which is so refreshing because we've worked hard last year to get into a good routine. The bussing has been a challenge, with him being picked up late every day (and therefore arriving late to school), and today he magically arrived home 15 minutes earlier than scheduled. So unfortunately we're the squeaky wheel calling the bus company every morning after the bus is more than 10 minutes late and calling the special education office who coordinates the bussing. While we don't like to be the pain, we also know how hard it is for Teddy to wait for the bus and how disruptive it is for him (and us) when he's picked up late. 

Aside from that hiccup, the one thing that's been on my mind last week is the inherent value we bring as humans to the world. It was on my mind as Teddy headed back to school, and so many people were so genuinely happy and excited to see him again. It's not because Teddy is a star student, super helpful in the classroom, leading by example with class participation, excelling at academics, etc. In terms of what society often values in productivity (being a productive member of society), Teddy doesn't check those boxes. But he is inherently valuable as a human being for who he is. He is enough (and if I'm being honest, some days more than enough). 

It's something I'm trying to convey to AJ, who struggles with his self-worth being tied in his grades, productivity, etc. It's something I think most of us struggle with, but it's so easy to see in Teddy. His presence, who he is, is what people value in him. It's why they're excited to see him. It's a pretty cool thing and yet another way I learn from life with Teddy.

Friendship

As parents, we want our children to thrive physically, emotionally and socially. We want them to be accepted and embraced for the wonderful, quirky little humans they are. We want them to have friends, good friends.

Over the last two years, I've had the pleasure of watching AJ thrive in middle school with an incredible friend group. He's found his tribe of friends who share common interest, laugh hard together, definitely fit together in their own wonderfully weird way and have each other's backs. It's been such a joy to get to know these boys and to see AJ have the friendships he's developed. And, boy, is he a good friend, thoughtful, kind and empathetic.

With Teddy, it's always a bit of a mystery what happens outside the realm of our supervision. We know he's had playdates with our friend's kids and that he's a social boy who believes everyone is his friend. He's had two friends from the bus and school through the years who have done play dates, and he's certainly enjoyed those. But this last year has been incredibly special in terms of friendship.

At his after-school programming, he became friends with another younger boy. Since I don't do after-programming pickup most days, I was quite confused at the library when all of the sudden a woman asked me if Teddy was Teddy. I said yes, and she told her son that Teddy was at the library. This little boy screamed Teddy's name, ran across the library and scooped him into a hug all the while Teddy was grinning and excited to see him. I told the lady I needed a bit of help, and she clarified her son and Teddy were friends from this programming. It was just cool to see that relationship.

The other relationship that has blossomed into a full-on bromance is Teddy and his friend Mikey. What started as classmates and friends at school has evolved into all sorts of play dates this summer, playing baseball on the same team, shared dinners and all sorts of fun. No matter how much time these two spend together, it is never enough! Mikey is constantly asking what Teddy is doing, when he'll see Teddy and if Teddy can come play. And Teddy is always searching for more of Mikey, asking in his own way to include him in activities and literally bouncing up and down with joy to see him every time. 

Baseball besties made this season even more fun!

It was interesting hearing from Mike's parents about their introduction to Teddy. They said Mikey constantly talked about Teddy, how much fun they had at school, how they sit together, and nonstop chatter about Teddy. But they never got details exactly on what they did together or what they talked about, so they weren't quite sure what to expect. They reached out to us through a letter sent home on the bus with Teddy how they've heard all about Teddy and would we like to get together. I was so tempted to be sassy and say we'd never heard a word about Mikey but figured that wasn't a good way to start a friendship. You can imagine that when they learned Teddy is non-speaking that clarified for them why they never heard what the boys discussed. 

I'm so glad they reached out because the two boys are such a joy to watch together, and they make each other so darn happy. Mikey talks enough for both of them, but they understand each other with Teddy's signs and gestures and simply get along. 

For a child like Teddy, it's incredibly cool to see this type of friendship develop. I'm here for all the best friend moments! (No, really, I still have to supervise Teddy. But dang, this is mostly joyful to supervise.)